https://www.selleckchem.com/pr....oducts/d-galactose.h
Homozygous pathogenic truncating variants in WDR72 was detected in all probands. Patients with WDR72 mutations show mild rate-dependent distal RTA with variable metabolic acidosis, and intact ability to acidify the urine on provocative testing. Concomitant proximal tubular dysfunction may be present. Mutations in WDR72 should be considered in patients with suspected distal RTA, especially if associated with dental defects. Patients with WDR72 mutations show mild rate-dependent distal RTA with variable metabolic acidosis, and intact
Like
Comment
Share
